Viewpoint: Could better understanding of risk factors for comorbidities pave the way towards personalized therapy in rheumatoid arthritis?

In addition to joints, several organs can be affected in rheumatoid arthritis. Coexisting conditions with different pathomechanisms all contribute to disease activity, treatment efficacy, mortality and quality of life. The wide selection of treatment options makes it possible for rheumatologists to personalize treatment for their patients, which in present practice mainly includes the consideration of established comorbidities and contraindications.

Photon-counting computed tomography in the assessment of rheumatoid arthritis-associated interstitial lung disease: an initial experience.

Purpose: Interstitial lung disease (ILD) accounts for a significant proportion of mortality and morbidity in patients with rheumatoid arthritis (RA). The aim of this cross-sectional study is to evaluate the performance of novel photon-counting detector computed tomography (PCD-CT) in the detection of pulmonary parenchymal involvement.

Methods: Sixty-one patients with RA without a previous definitive diagnosis of ILD underwent high-resolution (HR) (0.

Non-pharmacological treatment in difficult-to-treat rheumatoid arthritis.

Although the management of rheumatoid arthritis (RA) has improved remarkably with new pharmacological therapies, there is still a significant part of patients not reaching treatment goals. Difficult-to-treat RA (D2TRA) is a complex entity involving several factors apart from persistent inflammation, thereafter requiring a holistic management approach. As pharmacological treatment options are often limited in D2TRA, the need for non-pharmacological treatments (NPT) is even more pronounced.

Rare clinical manifestations in systemic lupus erythematosus: a review on frequency and clinical presentation.

Objectives: The purpose of this study was to review the frequency and clinical presentation of the rarest clinical manifestations of systemic lupus erythematosus (SLE).

Methods: A list of 6 rare SLE manifestations were defined: gastrointestinal, liver, pulmonary, cardiac, ocular and neurological manifestations. Each topic was assigned to a pair of authors to perform a literature search and article review.

[Hungarian consensus recommendation on the role of vitamin D in disease prevention and treatment].

Nine Hungarian medical societies have developed a consensus recommendation on the preferred normal range of vitamin D, the dose of vitamin D supplementation and the method of administration. They summarized the clinical conditions and diseases the development of which may be associated with vitamin D deficiency (VDD). VDD is extremely common in Hungary, especially in late winter.

The rs4844880 polymorphism in the promoter region of the HSD11B1 gene associates with bone mineral density in healthy and postmenopausal osteoporotic women.

Introduction: The 11β-hydroxysteroid dehydrogenase type 1 enzyme (11β-HSD1) plays an important role in the regulation of local glucocorticoid concentration in a tissue specific manner. Previous studies indicated associations between polymorphisms (SNPs) of the HSD11B1 gene and laboratory as well as osteodensitometric parameters of bone metabolism. In our present work we examined whether the tagging HSD11B1 gene polymorphisms could influence bone metabolism in healthy and postmenopausal osteoporotic women.

ACTH-induced cortisol release is related to the copy number of the C4B gene encoding the fourth component of complement in patients with non-functional adrenal incidentaloma.

Objective: According to our previous findings, carriers of the C4B*Q0 genotype, which means zero or one copy of the C4B gene, which is located in the RCCX copy number variation region on chromosome 6, have a significantly shorter life-expectancy and higher risk of cardiovascular disease than non-carriers. We have postulated that the C4B*Q0 genotype is linked to variant(s) of the neighboring CYP21A2 gene encoding a steroid 21-hydroxylase with altered function.

Design: Single-center, observational, retrospective study.

BclI polymorphism of the glucocorticoid receptor gene is associated with decreased bone mineral density in patients with endogenous hypercortisolism.

Objective: The hypothalamic-pituitary-adrenal axis setpoint and the glucocorticoid sensitivity of various tissues are at least partially genetically determined. We investigated the impact of glucocorticoid receptor (GR) gene polymorphisms, including the BclI, N363S, ER22/23EK and A3669G variants on bone turnover and/or mineral density (BMD) in patients with endogenous glucocorticoid excess.

Design: Sixty patients including 35 patients with ACTH producing pituitary adenoma (CD) and 25 patients with adrenal Cushing's syndrome (ACS) as well as 129 healthy subjects were genotyped.

The variant N363S of glucocorticoid receptor in steroid-induced ocular hypertension in Hungarian patients treated with photorefractive keratectomy.

Purpose: Variation in sensitivity to glucocorticoids observed in healthy population is influenced by genetic polymorphisms of the glucocorticoid receptor gene (NR3C1). N363S, ER22/23EK, and Bcl I have been previously described as glucocorticoid-sensitivity modulating polymorphisms. We investigated whether these variants may contribute to steroid-induced ocular hypertension and if they play a role as protective or risk factors during exogenous glucocorticoid administration.

[Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity].

Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity. The physiologic response and sensitivity to glucocorticoids may significantly differ among species, individuals, tissues and cell types. The variability of the effect of endogenous and exogenous glucocorticoids is largely determined by genetic components, of which the authors review the knowledge on the glucocorticoid receptor gene.

Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction.

The Bcl I polymorphism of the glucocorticoid receptor gene, recently identified as an intronic C to G change 646 nucleotides downstream of exon 2, has been associated with increased sensitivity to glucocorticoids and its potential relevance in metabolic disturbances and in various disorders has been extensively investigated. In the present study, we designed a single-tube allele-specific polymerase chain reaction for genotyping this polymorphism in peripheral blood DNA samples. When the Bcl I polymorphism was detected with this novel method in a cohort of 247 healthy subjects, the observed genotype distribution matched the Hardy-Weinberg equilibrium (100 subjects homozygous for the wild-type, 124 heterozygous and 23 homozygous for the mutant allele).

Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas.

Context: Some variants of the glucocorticoid receptor (GR) gene have been found to alter glucocorticoid sensitivity and have been associated with altered metabolic profiles.

Objective: The objective of the study was to examine whether N363S and ER22/23K variants of the GR gene may be associated with the development of adrenal incidentalomas and whether these variants may contribute to metabolic abnormalities frequently present in these patients.

Design, Setting, And Patients: The study included 99 patients with unilateral and 44 patients with bilateral adrenal incidentalomas, 102 population-matched control subjects, and 100 patients with type 2 diabetes mellitus.

[Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients].

Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreening of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing).

A rapid and simple method for detection of Asn363Ser polymorphism of the human glucocorticoid receptor gene.

Asn363Ser polymorphism of the human glucocorticoid receptor has been detected in approximately 4% of the population and it has been associated with several diseases and pathologic conditions. Here we describe a new, simple and cost-effective allele-specific PCR method for a rapid screening of this polymorphism. When compared to currently used PCR-based restriction fragment length polymorphism (RFLP) and direct DNA sequencing methods, the new allele-specific PCR method showed 100% accuracy for the detection of Asn363Asn and Asn363Ser genotypes.

Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1.

Identification of mutations, which cause genetic diseases can be difficult when the disease is caused by the mutation of a large gene, which contains multiple exons. Detection of these mutations by DNA sequencing can be made more efficient by using mutation detection methods for pre-screening to identify the affected exon and to screen for the presence of already identified mutations in family members. These screening methods include denaturing gradient gel electrophoresis (DGGE), temperature gradient gel electrophoresis (TGGE), single-strand conformation polymorphism, conformation-sensitive gel electrophoresis (CSGE), heteroduplex analysis and denaturing high-performance liquid chromatography (DHPLC).

Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.

We report an unusual presentation of multiple endocrine neoplasia type 1 (MEN 1) in a young woman who was subsequently proven to have a novel mutation of the MEN1 gene. The young patient, aged 25 years, was investigated for abdominal discomfort and left upper abdominal pain. Her family history was unremarkable, except an unknown disorder of her father causing early death.